Incidental Mutation 'R2519:Tbk1'
ID 254230
Institutional Source Beutler Lab
Gene Symbol Tbk1
Ensembl Gene ENSMUSG00000020115
Gene Name TANK-binding kinase 1
Synonyms 1200008B05Rik
MMRRC Submission 040423-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2519 (G1)
Quality Score 136
Status Validated
Chromosome 10
Chromosomal Location 121382360-121422692 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 121393164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 462 (T462K)
Ref Sequence ENSEMBL: ENSMUSP00000020316 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020316] [ENSMUST00000219400]
AlphaFold Q9WUN2
PDB Structure Crystal structure of mouse TBK1 bound to BX795 [X-RAY DIFFRACTION]
Crystal structure of mouse TBK1 bound to SU6668 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000020316
AA Change: T462K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000020316
Gene: ENSMUSG00000020115
AA Change: T462K

DomainStartEndE-ValueType
Pfam:Pkinase 9 300 2.6e-46 PFAM
Pfam:Pkinase_Tyr 10 250 1.5e-27 PFAM
low complexity region 355 366 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218460
Predicted Effect probably benign
Transcript: ENSMUST00000219400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220386
Meta Mutation Damage Score 0.0600 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (72/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. [provided by RefSeq, Oct 2010]
PHENOTYPE: Homozygous null mice display embryonic lethality. Mice homozygous for a different knock-out allele exhibit increased prenatal lethality, increased infiltration of mononuclear and/or granulomatous cells in multiple organs and tissues at 3 months of age, and increased lethality in response to LPS. [provided by MGI curators]
Allele List at MGI

All alleles(23) : Targeted(5) Gene trapped(18)

Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933408J17Rik G A 10: 93,425,450 (GRCm39) probably benign Het
Abtb3 T A 10: 85,487,475 (GRCm39) V981D probably damaging Het
Actn1 A T 12: 80,239,163 (GRCm39) H247Q probably damaging Het
Adgre1 T C 17: 57,717,956 (GRCm39) C323R probably damaging Het
Adgrf2 T A 17: 43,021,298 (GRCm39) I509F probably damaging Het
Aknad1 A T 3: 108,663,784 (GRCm39) T331S probably damaging Het
Aldh1a3 T C 7: 66,072,047 (GRCm39) D39G probably benign Het
Alms1 C A 6: 85,644,945 (GRCm39) probably benign Het
Ankhd1 T G 18: 36,711,596 (GRCm39) probably null Het
Arfgef2 T C 2: 166,723,164 (GRCm39) S1535P probably benign Het
Bicc1 T C 10: 70,766,474 (GRCm39) E916G probably damaging Het
Birc2 A T 9: 7,821,180 (GRCm39) D381E possibly damaging Het
Carnmt1 A G 19: 18,671,075 (GRCm39) I316V probably benign Het
Cdk2ap1rt A G 11: 48,716,950 (GRCm39) I76T probably damaging Het
Chd6 T A 2: 160,871,796 (GRCm39) Y213F possibly damaging Het
Coq7 A T 7: 118,109,371 (GRCm39) W226R unknown Het
Cyp2d9 G A 15: 82,338,719 (GRCm39) probably null Het
Ddx42 T A 11: 106,136,155 (GRCm39) N635K probably damaging Het
Dmtf1 T C 5: 9,179,323 (GRCm39) T292A possibly damaging Het
Dnajb8 T C 6: 88,199,857 (GRCm39) V131A probably benign Het
Dock6 T C 9: 21,727,629 (GRCm39) E1367G possibly damaging Het
Dvl1 T A 4: 155,940,000 (GRCm39) Y377* probably null Het
Eif4g3 T A 4: 137,824,629 (GRCm39) F278Y probably benign Het
Fancg A T 4: 43,008,787 (GRCm39) L150H probably damaging Het
Fastkd5 T C 2: 130,458,114 (GRCm39) T159A possibly damaging Het
Fkrp G T 7: 16,544,877 (GRCm39) Y328* probably null Het
Fmo3 A T 1: 162,785,874 (GRCm39) V372D probably damaging Het
Gsta5 T G 9: 78,211,721 (GRCm39) L161R probably damaging Het
Gtf2h4 C A 17: 35,981,801 (GRCm39) G143W probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmcn1 A T 1: 150,649,571 (GRCm39) Y638* probably null Het
Ighv11-2 T A 12: 114,011,912 (GRCm39) Q101L probably damaging Het
Lgalsl2 A T 7: 5,362,833 (GRCm39) I155F probably damaging Het
Lipf G T 19: 33,942,925 (GRCm39) V78L probably damaging Het
Magi3 T C 3: 103,923,081 (GRCm39) E1212G probably benign Het
Mfap5 T C 6: 122,502,948 (GRCm39) S75P probably damaging Het
Mn1 C A 5: 111,566,418 (GRCm39) H129Q possibly damaging Het
Morc3 A G 16: 93,659,427 (GRCm39) probably null Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Myo5c A G 9: 75,157,718 (GRCm39) I224V probably damaging Het
Nup58 T C 14: 60,460,808 (GRCm39) T486A probably benign Het
Or5m13b A G 2: 85,753,951 (GRCm39) Y113C probably damaging Het
Or8b46 T A 9: 38,450,281 (GRCm39) V30D probably damaging Het
Parp14 A T 16: 35,678,573 (GRCm39) L465Q possibly damaging Het
Pcare C T 17: 72,058,642 (GRCm39) S345N probably damaging Het
Plcd3 A T 11: 102,971,226 (GRCm39) I110N possibly damaging Het
Prx A G 7: 27,217,668 (GRCm39) E862G probably benign Het
Rad50 G A 11: 53,598,012 (GRCm39) probably benign Het
Rbm15 A G 3: 107,238,149 (GRCm39) S750P probably benign Het
Reln C A 5: 22,549,367 (GRCm39) A14S unknown Het
Rph3a T C 5: 121,092,485 (GRCm39) Y372C probably damaging Het
Serpine2 T A 1: 79,777,256 (GRCm39) H187L possibly damaging Het
Slc11a2 T C 15: 100,299,204 (GRCm39) D122G probably damaging Het
Slc25a32 A T 15: 38,959,450 (GRCm39) V289E probably damaging Het
Slc25a46 A T 18: 31,735,814 (GRCm39) S142T probably benign Het
Srm A G 4: 148,675,961 (GRCm39) probably null Het
Srsf5 A G 12: 80,995,870 (GRCm39) D123G probably damaging Het
Stab1 A T 14: 30,876,829 (GRCm39) C832S probably damaging Het
Stab2 A C 10: 86,770,704 (GRCm39) probably benign Het
Suds3 T C 5: 117,233,018 (GRCm39) N282S probably damaging Het
Taar9 A T 10: 23,985,152 (GRCm39) V94E probably damaging Het
Taf2 C A 15: 54,915,643 (GRCm39) A428S probably benign Het
Tcaf2 T G 6: 42,606,365 (GRCm39) I530L possibly damaging Het
Tigd4 A G 3: 84,501,221 (GRCm39) Y46C probably damaging Het
Topors G T 4: 40,261,714 (GRCm39) Y523* probably null Het
Tpte T C 8: 22,823,176 (GRCm39) probably benign Het
Trpv5 T A 6: 41,651,284 (GRCm39) Q254L probably damaging Het
Trpv6 G A 6: 41,601,550 (GRCm39) Q457* probably null Het
Ush2a A T 1: 187,999,304 (GRCm39) M205L probably benign Het
Vmn1r90 A T 7: 14,295,643 (GRCm39) Y152N probably damaging Het
Vmn2r124 T A 17: 18,294,280 (GRCm39) V789D probably damaging Het
Vmn2r99 T C 17: 19,598,970 (GRCm39) I218T probably damaging Het
Vstm2b T C 7: 40,552,299 (GRCm39) V248A probably benign Het
Wnk2 T C 13: 49,224,505 (GRCm39) K1019E probably damaging Het
Zfhx4 C T 3: 5,468,418 (GRCm39) P2859S probably benign Het
Zfp229 T A 17: 21,964,568 (GRCm39) F266Y possibly damaging Het
Zfp616 T A 11: 73,975,094 (GRCm39) C454* probably null Het
Other mutations in Tbk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Tbk1 APN 10 121,388,155 (GRCm39) missense probably benign 0.00
IGL01021:Tbk1 APN 10 121,387,177 (GRCm39) missense probably benign 0.07
IGL01371:Tbk1 APN 10 121,395,776 (GRCm39) missense probably benign 0.09
IGL01383:Tbk1 APN 10 121,412,184 (GRCm39) missense probably damaging 1.00
IGL01583:Tbk1 APN 10 121,393,134 (GRCm39) missense probably benign
IGL01734:Tbk1 APN 10 121,407,888 (GRCm39) nonsense probably null
IGL02068:Tbk1 APN 10 121,406,694 (GRCm39) missense probably damaging 1.00
IGL02676:Tbk1 APN 10 121,403,985 (GRCm39) missense possibly damaging 0.82
IGL02737:Tbk1 APN 10 121,395,767 (GRCm39) missense probably null 0.96
IGL03334:Tbk1 APN 10 121,420,104 (GRCm39) missense possibly damaging 0.79
Pathfinder UTSW 10 121,388,406 (GRCm39) missense probably damaging 0.98
pioneer UTSW 10 121,414,595 (GRCm39) missense probably damaging 1.00
trailblazer UTSW 10 121,406,590 (GRCm39) missense probably damaging 1.00
BB006:Tbk1 UTSW 10 121,393,138 (GRCm39) missense probably benign 0.00
BB016:Tbk1 UTSW 10 121,393,138 (GRCm39) missense probably benign 0.00
R0030:Tbk1 UTSW 10 121,397,529 (GRCm39) missense probably benign 0.09
R0386:Tbk1 UTSW 10 121,420,159 (GRCm39) missense probably damaging 0.96
R1396:Tbk1 UTSW 10 121,407,821 (GRCm39) missense probably damaging 1.00
R1430:Tbk1 UTSW 10 121,395,839 (GRCm39) missense probably benign
R1522:Tbk1 UTSW 10 121,387,223 (GRCm39) missense probably benign 0.06
R1542:Tbk1 UTSW 10 121,395,840 (GRCm39) missense probably benign
R1717:Tbk1 UTSW 10 121,397,550 (GRCm39) missense probably benign 0.10
R1860:Tbk1 UTSW 10 121,383,076 (GRCm39) missense probably benign 0.01
R2188:Tbk1 UTSW 10 121,399,836 (GRCm39) nonsense probably null
R4627:Tbk1 UTSW 10 121,403,985 (GRCm39) missense possibly damaging 0.82
R4945:Tbk1 UTSW 10 121,387,174 (GRCm39) missense probably damaging 0.98
R5061:Tbk1 UTSW 10 121,412,241 (GRCm39) missense possibly damaging 0.62
R5256:Tbk1 UTSW 10 121,406,590 (GRCm39) missense probably damaging 1.00
R5310:Tbk1 UTSW 10 121,391,956 (GRCm39) missense probably benign 0.00
R6187:Tbk1 UTSW 10 121,420,148 (GRCm39) missense probably benign 0.02
R6425:Tbk1 UTSW 10 121,399,867 (GRCm39) missense probably benign 0.00
R6512:Tbk1 UTSW 10 121,414,526 (GRCm39) missense probably damaging 1.00
R6897:Tbk1 UTSW 10 121,395,782 (GRCm39) missense probably benign 0.00
R7268:Tbk1 UTSW 10 121,388,404 (GRCm39) missense probably benign 0.03
R7609:Tbk1 UTSW 10 121,388,406 (GRCm39) missense probably damaging 0.98
R7860:Tbk1 UTSW 10 121,388,151 (GRCm39) missense possibly damaging 0.55
R7929:Tbk1 UTSW 10 121,393,138 (GRCm39) missense probably benign 0.00
R8378:Tbk1 UTSW 10 121,414,597 (GRCm39) missense probably damaging 0.96
R9680:Tbk1 UTSW 10 121,389,841 (GRCm39) missense probably benign 0.00
X0022:Tbk1 UTSW 10 121,396,198 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGACCTGCTATTCTCCCTTGTGAG -3'
(R):5'- AGGGTAACAAGCTGGCTAGC -3'

Sequencing Primer
(F):5'- ATTCTCCCTTGTGAGCCAGGG -3'
(R):5'- TAGCGTACTACCTGGCACAAATAATG -3'
Posted On 2014-12-04